150665 20251017144638.0 doi 10.1016/j.mito.2015.03.001 sideral 89762 ART-2015-89762 eng O''Callaghan,M. M. Mutation loads in different tissues from six pathogenic mtDNA point mutations 2015 Access copy available to the general public Unrestricted In this work, we studied the mtDNA mutations m.3243A > G, m.3252A > G, m.15923A > G, m.13513G > A, m.8993T > G and m.9176T > C in the blood, urine and buccal mucosa of a cohort of 27 subjects. Urine cells had the highest mutation load for all of the mtDNA mutations studied. The mutation loads in the blood, urine and the buccal mucosa were significantly higher in the mitochondrial disorder group that manifested clinical signs than in the asymptomatic subjects. In conclusion, urine is a suitable biological sample for molecular diagnosis of mtDNA mutations and for the study of the attendant risk of recurrence in the offspring of asymptomatic mothers identified as non-carriers after mutation analysis in blood. info:eu-repo/semantics/openAccess by-nc-nd https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es 3.647 2015 GENETICS & HEREDITY 48 / 166 = 0.289 2015 Q2 T1 CELL BIOLOGY 78 / 187 = 0.417 2015 Q2 T2 1.804 2015 Molecular Medicine 2015 Q1 Cell Biology 2015 Q2 Molecular Biology 2015 Q2 info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion Emperador,S. (orcid)0000-0001-5964-6138 Pineda,M. López-Gallardo,E. Universidad de Zaragoza (orcid)0000-0002-3217-1424 Montero,R. Yubero,D. Jou,C. Jimenez-Mallebrera,C. Nascimento,A. Ferrer,I. García-Cazorla,A. (orcid)0000-0001-8245-349X Ruiz-Pesini,E. Montoya,J. Universidad de Zaragoza (orcid)0000-0003-1770-6299 Artuch,R. 1003 443 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Histología 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 22 (2015), 17-22 Mitochondrion MITOCHONDRION 1567-7249 448821 http://zaguan.unizar.es/record/150665/files/texto_completo.pdf Postprint 2337265 http://zaguan.unizar.es/record/150665/files/texto_completo.jpg?subformat=icon icon Postprint oai:zaguan.unizar.es:150665 articulos driver 2025-10-17-14:30:28 ARTICLE